Gaucher disease type 2 (case report)

Gaucher disease type 2 (case report)

The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopeni...

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Bibliographic Details
Main Authors: D. R. Shagieva, R. V. Magzhanov, A. R. Rakhmatullin, E. V. Sayfullina, R. G. Musin
Format: Article
Language:Russian
Published: ABV-press 2020-09-01
Series:Русский журнал детской неврологии
Subjects:
gaucher disease
hepatosplenomegaly
glucocerebrosidase
Online Access:https://rjdn.abvpress.ru/jour/article/view/335
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